Identification and clinical characteristics of a novel missense ADGRG1 variant in bilateral Frontoparietal Polymicrogyria: The electroclinical change from infancy to adulthood after Callosotomy in three siblings.

OBJECTIVE: Bilateral frontoparietal polymicrogyria (BFPP) is a rare genetic-related migration disorder. It has been attributed to loss-of-function of the ADGRG1 gene, which encodes an adhesion G protein-coupled receptor, ADGRG1/GPR56. We report the EEG findings of BFPP in three Asian patients, and confirmed that change in protein function was caused by the novel missense variant (p.Leu290Pro). METHODS: We reviewed the medical records of three siblings with BFPP including one elder girl and two identical twin boys from birth to adulthood. The clinical symptoms, electroencephalography (EEG), brain MRI, whole-exome sequencing, treatment including medications, neuromodulation, and epilepsy surgery, and clinical outcomes were reviewed. The protein structure of a novel missense variant (p.Leu290Pro) was predicted by in silico studies, and molecular analysis was performed via typical flow cytometry and Western blotting. RESULTS: The elder girl (Patient 1) was 22 years old and the twin boys (Patients 2 and 3) were 20 years old at the time of publication. All of them presented with typical clinical symptoms/signs and MRI findings of BFPP. Whole-exome sequencing followed by Sanger confirmation showed that all three patients had compound heterozygous variants in the ADGRG1 gene. The missense variant (p.Leu290Pro) was confirmed to be related to a reduction in cell surface GPR56 expression. High-amplitude rhythmic activity was noted in sleep EEG during infancy, which may have been due to excessive sleep spindle, and the rhythm disappeared when they were of pre-school age. Partial callosotomy provided short-term benefits in seizure control in Patients 1 and 2, and combined vagus nerve stimulation and partial callosotomy provided longer benefits in Patient 3. SIGNIFICANCE: Sleep EEG findings of high-amplitude rhythmic activity in our BFPP cases were only noted during infancy and childhood. We also confirmed that the missense variant (p.Leu290Pro) led to loss of function due to a reduction in cell surface GPR56 expression.

Robot-Assisted Radiofrequency Ablation Combined with Thermodynamic Simulation for Epilepsy Reoperations.

Repeat craniotomies to treat recurrent seizures may be difficult, and minimally invasive radiofrequency ablation is an alternative therapy. On the basis of this procedure, we aimed to develop a more reliable methodology which is helpful for institutions where real-time image monitoring or electrophysiologic guidance during ablation are not available. We used simulation combined with a robot-assisted radiofrequency ablation (S-RARFA) protocol to plan and execute brain epileptic tissue lesioning. Trajectories of electrodes were planned on the robot system, and time-dependent thermodynamics was simulated with radiofrequency parameters. Thermal gradient and margin were displayed on a computer to calculate ablation volume with a mathematic equation. Actual volume was measured on images after the ablation. This small series included one pediatric and two adult patients. The remnant hippocampus, corpus callosum, and irritative zone around arteriovenous malformation nidus were all treated with S-RARFA. The mean error percentage of the volume ablated between preoperative simulation and postoperative measurement was 2.4 ± 0.7%. No complications or newly developed neurologic deficits presented postoperatively, and the patients had little postoperative pain and short hospital stays. In this pilot study, we preliminarily verified the feasibility and safety of this novel protocol. As an alternative to traditional surgeries or real-time monitoring, S-RARFA served as successful seizure reoperation with high accuracy, minimal collateral damage, and good seizure control.

Correlation of anti-acetylcholine receptor antibody levels and long-term outcomes of juvenile myasthenia gravis in Taiwan: a case control study.

BACKGROUND: Myasthenia gravis is the most common disease affecting the neuromuscular junction. The most common etiology among patients with juvenile myasthenia gravis is the production of antibodies against the acetylcholine receptor. However, the clinical outcome in relation to serum levels of anti-acetylcholine receptor antibodies in juvenile myasthenia gravis has rarely been discussed. We aimed to analyze the correlation between the presence of anti-acetylcholine receptor antibodies and outcome in juvenile myasthenia gravis. METHODS: Patients diagnosed with juvenile myasthenia gravis younger than of 20 years of age were retrospectively recruited from January 1995 to February 2017 in a tertiary referral medical center. According to the Myasthenia Gravis Foundation of America outcome scale, the primary outcome was complete symptom remission and cessation of medications for at least 1 year measured 2 years after diagnosis. Secondary outcome was complete symptom remission at the last outpatient clinic. RESULTS: A total of 54 patients were followed up for over 2 years. Nine patients (9/54, 16.7%) achieved complete remission without medication use at 2 years after diagnosis. Thirteen (24.1%) patients achieved complete remission during longer follow-up periods. Those with negative anti-acetylcholine receptor antibodies were more likely to achieve complete remission at 2 years (6/15 [40%] vs. 3/39 [7.7%], 95% Confidence interval [CI] 1.670 to 38.323) and at the last outpatient clinic follow-up (8/15 [53.3%] vs. 5/39 [12.8%], 95% CI 2.367 to 20.704). Thirteen patients with comorbid autoimmune thyroid diseases were older than those without disease (11.8 ± 5.8 years old vs. 8.0 ± 6.3 years old, 95% CI 0.018 to 7.33). Moreover, patients negative for anti-acetylcholine receptor antibodies were less likely comorbid with autoimmune thyroid disease (1/35 [2.9%] vs. 12/71 [16.9%], 95% CI 0.018 to 1.161). CONCLUSIONS: Juvenile myasthenia gravis patients without anti-acetylcholine antibodies exhibited significantly increased complete remission rates and a reduced likelihood of comorbid autoimmune thyroid diseases compared with those with anti-acetylcholine receptor antibodies among Chinese.

Immunotherapy for anti-NMDA receptor encephalitis: Experience from a single center in Taiwan.

BACKGROUND: Anti-N-methyl-D-aspartate (NMDA) receptor encephalitis is an anti-neuronal antibody-mediated inflammatory brain disease that causes severe psychiatric and neurological deficits in previously healthy patients. The aims of this study were to demonstrate the clinical characteristics of patients diagnosed with anti-NMDA receptor encephalitis and to compare the different treatment strategies among these patients. METHODS: Patients presenting with newly acquired psychiatric and/or neurological deficits were studied retrospectively from 2009 to 2017. Patients with evidence of anti-NMDA receptor antibodies in serum and/or cerebrospinal fluid were enrolled. The modified Rankin scale was used to assess the initial status and outcomes of the enrolled patients. Details of the clinical presentations and results of investigations were analyzed. RESULTS: All (n = 24) of the patients received first-line immunotherapy (steroids, and/or intravenous immunoglobulin, and/or plasma exchange), and 14 patients received second-line immunotherapy (rituximab and/or cyclophosphamide). The mean time between the first- and second-line treatment was 13 days. During the first 6 months, 20 patients (20/24, 83%) achieved a good outcome (modified Rankin Scale score ≤2) and 15 patients (15/24, 62.5%) completely recovered. Four patients (17.7%) relapsed, and three patients (12.5%) had associated tumors. CONCLUSION: Immunotherapy is an effective treatment for anti-NMDA receptor encephalitis. Rituximab and/or cyclophosphamide are treatment options for those who cannot tolerate or do not respond to first-line immunotherapy. Prospective studies are necessary to investigate the role of rituximab and cyclophosphamide in anti-NMDA receptor encephalitis.

Schizencephaly in children: A single medical center retrospective study.

BACKGROUND: The aim of this study was to evaluate the clinical, and neuroimaging features, outcomes, and other associated systemic disorders in children with schizencephaly at a single medical center in Taiwan. METHODS: We retrospectively reviewed the medical records and magnetic resonance images (MRI) of children with schizencephaly between January 2000 and December 2014. The MRI findings of schizencephaly were recorded along with the presence of associated cerebral disorders. Clinical, electroencephalographic and additional systemic disorders were also recorded. RESULTS: A total of 21 patients (13 males and 8 females) were included in the study. According to the location of schizencephaly, the patients were classified into two groups: unilateral (n = 16) and bilateral (n = 5). The majority of the patients with neurological deficits were detected before 1 year of age, especially in bilateral clefts. The most common initial presentation was hemiparesis in unilateral schizencephaly, and seizures in bilateral schizencephalies. Ventriculomegaly was the most common associated cerebral disorder, and the most common additional systemic disorders included congenital heart disease, hydronephrosis, and strabismus. Seventeen patients suffered from epileptic seizures with generalized tonic-clonic seizures being the most common. Eight patients developed refractory epilepsy. The majority of the patients had motor deficits, intellectual disabilities, and language deficits, especially in bilateral clefts. CONCLUSIONS: This study demonstrates that the clinical features of schizencephaly vary widely, with their severity closely related to the cleft. Determining the type, size, and extent of schizencephaly is useful to plan management and predict the prognosis.

Primary spinal tumors in childhood: A single institution 15 year experience.

BACKGROUND: Pediatric primary spinal tumors (PST) are fairly uncommon, with little available data regarding incidence and outcomes. MATERIALS AND METHODS: We conducted a retrospective review of the 22 consecutive patients less than 18 years old diagnosed with PST between March 1997 and May 2011 and treated at Chang Gung Children Hospital. All patients had undergone magnetic resonance imaging (MRI) for pre-operative evaluation and operations for PST. The extent of tumor removal was assessed by surgical report by the neurosurgeon or by post-operative MRI if available. RESULTS: Ten of them had intramedullary tumors and 12 had intradural extramedullary tumors. All patients were treated with surgery to the primary site. A total of 15 patients underwent gross total tumor resection and seven patients received post-operative radiotherapy. Five patients received adjuvant chemotherapy for their primary tumor. Fourteen patients (64%) survived from study entry without tumor progression. CONCLUSIONS: PST encompassed a diverse group of pathologic entities that differ markedly based on the location and age of the children. Total resection of pediatric PST in children could be performed with acceptable risk and satisfactory long-term results.

Clinical and neuroimaging findings in children with gray matter heterotopias: A single institution experience of 36 patients.

OBJECTIVE: To describe the clinical spectrum and neuroimaging features of childhood gray matter heterotopias in a single tertiary hospital in Taiwan. METHODS: We retrospectively reviewed the medical records and magnetic resonance images (MRI) of 36 patients with gray matter heterotopias, 19 females and 17 males, between July 1999 and June 2014. The MRI morphologic findings of gray matter heterotopias were recorded along with the presence of associated cerebral malformations. The clinical, electrophysiological and associated systemic malformation data were also recorded. RESULTS: A total of 36 patients were included in the study. Their ages ranged from 1 month to 18 years with a mean age of 3 years 6 months. According to the location of gray matter heterotopias, patients were classified into two groups: periventricular (26) and band (10). The phenotypic spectrum in our population differed from that described previously. In the periventricular group, additional cerebral malformations were found in 18/26 (69%) and systemic malformations in 14/26 (54%). In the band group, additional cerebral malformations were found in 5/10 (50%) and systemic malformations in 2/10 (20%). The majority of patients had developmental delay and intellectual deficit. Twenty-two patients suffered from epileptic seizures with 12 developing refractory epilepsy. CONCLUSIONS: In periventricular heterotopias, the most common associated cerebral malformation was ventriculomegaly, followed by agenesis of corpus callosum. Congenital heart disease was the most common additional systemic malformation. However, the most common associated cerebral malformation was pachygyria in band form. The majority of patients had developmental delay, intellectual deficit, especially in band heterotopias.

Anti-N-methyl-D-aspartate receptor encephalitis in Taiwan--a comparison between children and adults.

BACKGROUND: Since the discovery of antibodies against the N-methyl-D-aspartate receptor in 2007, anti-N-methyl-D-aspartate receptor encephalitis is increasingly recognized worldwide. We compare the clinical features of adults and children with this disorder in Taiwan. METHODS: Patients admitted to Chang Gung Memorial Hospital and Chang Gung Children's Hospital and those who were referred from other institutions because of unknown encephalitis from 2009 to 2013 were enrolled, and their clinical features were analyzed. Data on cases from a review of the literature were also included in the analysis. RESULTS: Twelve patients (10 females) aged between 7 years and 28 years with anti-N-methyl-D-aspartate receptor encephalitis were identified. Six patients (50%) were <18 years old, one of whom was male and three of whom had an underlying tumor. Overall, 91.6% of the patients presented with mood, behavioral, or personality changes; 91.6% developed seizures; 100% had stereotyped movements; 83.3% had autonomic instability; and 66.7% had hypoventilation. Responses to immunotherapy were slow and variable. Overall, 63.6% of the patients had a substantial recovery after immunotherapy or removal of the tumor, and one patient experienced neurological relapses. There were no significant differences in clinical manifestations between children and adults. CONCLUSIONS: Anti-N-methyl-D-aspartate receptor encephalitis is increasingly recognized in Taiwan. It is characterized by its clinical features, predominantly affects females with and/or without an ovarian tumor, and it is a potentially treatable disorder. It is important for neurologists to be familiar with the clinical presentations of the disease in children and young adults.

Cervical spinal cord compression in a child with cervicofacial actinomycosis.

Actinomycosis is a rare, chronic, suppurative, and slowly progressive granulomatous disease caused by a group of filamentous gram-positive anaerobic bacteria belonging to the normal flora of the oral cavity, gastrointestinal, and genitourinary tracts. It may involve several organs; however, spinal cord compression has rarely been reported. We report a 7-year-3-month-old girl who suffered from neck pain with restricted movement, poor appetite, body weight loss, mild right limbs weakness, and a non-tender neck mass. Histopathology of the neck mass revealed sulfur granules of actinomyces. Since actinomycosis was strongly suspected, she was treated with high dose of parenteral penicillin G followed by oral penicillin with complete recovery. The unusual features of our case suggested that actinomycosis should be considered as a differential diagnosis of neck mass and cervical spinal cord compression.

Limbic encephalitis in Taiwanese children and adolescence: a single center study.

BACKGROUND: Non-viral limbic encephalitis, which may be paraneoplastic or idiopathic, is increasingly recognized in adults and children. Early identification of potential patients, who have neuronal autoantibodies to intracellular or neuronal surface antigens in order to give appropriate immunotherapy, is key to improving the prognosis. This cross-sectional study describes the clinical manifestation and the serological evidence of the presence of neuronal antibodies in Taiwanese children with limbic encephalitis. METHOD: We enrolled children and adolescents who had been hospitalized due to nonviral limbic encephalitis. Serum samples from these patients were collected to screen antibodies against intracellular antigens [amphiphysin, Ma2, Ri, Yo, Hu and antiglutamic acid decarboxylase (GAD)] and neuronal surface antigens [N-methyl-d-aspartate (NMDA) receptor, γ-amino butyric acid (GABAB) receptor and voltage-gated potassium channel complexes (VGKCs)]. RESULTS: All of the 10 enrolled patients had acute onset of fever and rapid clinical deterioration. They had persistent neuropsychiatric symptoms and 90% developed refractory epilepsy, despite six patients having been treated with methylprednisolone pulse therapy or intravenous immunoglobulin (IVIG) at the acute stage. In the laboratory findings, half of the cases were positive for antibodies with regards to intracellular antigens (amphiphysin or GAD). The general outcomes, assessed by Glasgow Outcome Scale, were similar between patients with and those without the antibodies (Mann-Whitney U test, p = 0.43). One patient, who was positive for antibodies to amphiphysin 10 years after disease onset, still had a significant response to oral prednisolone therapy. At the end of the follow-up period, no cancer or insulin-dependent diabetes mellitus was detected in any of the patients. CONCLUSION: This study provides evidence for a potential association between antibodies and limbic encephalitis. The presence of antibodies, especially antibodies to GAD, may serve as an indicator for immunotherapy.

Meningiomas in children and adolescents: a meta-analysis of individual patient data.

BACKGROUND: The epidemiological, prognostic, and therapeutic features of child and adolescent meningioma are poorly defined. Clinical knowledge has been drawn from small case series and extrapolation from adult studies. This study was done to pool and analyse the clinical evidence on child and adolescent meningioma. METHODS: Searches of PubMed, Medline, and Embase identified 35 case series of child and adolescent meningioma completed over the past 21 years. Individual patient data were obtained from 30 studies via direct communication with investigators. Primary outcomes were relapse-free survival (RFS) and overall survival. Prognostic variables were extent of initial surgery, use of upfront radiotherapy, age, sex, presence of neurofibromatosis, tumour location, and tumour grade. RFS and overall survival were analysed using Kaplan-Meier survival curves and multivariable Cox regression models. FINDINGS: From a total of 677 children and adolescents with meningioma, 518 were eligible for RFS analysis and 547 for overall survival analysis. Multivariable analysis showed that patients who underwent initial gross-total resection had better RFS (hazard ratio 0·16, 95% CI 0·10-0·25; p<0·0001) and overall survival (0·21, 0·11-0·39; p<0·0001) than those who had subtotal resection. No significant benefit was seen for upfront radiotherapy in terms of RFS (0·59, 0·30-1·16; p=0·128) or overall survival (1·10, 0·53-2·28; p=0·791). Patients with neurofibromatosis type 2 (NF2) had worse RFS than those without neurofibromatosis (2·36, 1·23-4·51; p=0·010). There was a significant change in overall survival with time between patients with NF2 compared with those without neurofibromatosis (1·45, 1·09-1·92; p=0·011); although overall survival was initially better for patients with NF2 than for those without neurofibromatosis, overall survival at 10 years was worse for patients with NF2. Patients with WHO grade III tumours had worse RFS than those with WHO grade I (3·90, 2·10-7·26; p<0·0001) and grade II tumours (2·49, 1·11-5·56; p=0·027). INTERPRETATION: Extent of initial surgical resection is the strongest independent prognostic factor for child and adolescent meningioma. No benefit for upfront radiotherapy was noted. Hence, aggressive surgical management, to achieve gross-total resection, is the initial treatment of choice. In the event of a subtotal resection, repeat resection is recommended to achieve maximum extirpation. Close observation is warranted for patients who have a subtotal resection or who have WHO grade III tumours. Patients without neurofibromatosis should have a minimum 10-year follow-up, whereas patients with NF2 should be considered a special risk category, necessitating life-long follow-up. FUNDING: None.

High-resolution melting analysis is a more effective approach for screening TSC genes mutations.

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with a prevalence of 1 in 95,136 in Taiwan. TSC is characterized by hamartomatous lesions in multiple organ systems. Genetic defects in TSC1 and TSC2 genes are the main causes of TSC. A molecular screening protocol using denaturing high-performance liquid chromatography (dHPLC) followed by DNA sequencing is currently performed to locate the genetic lesions in many clinical laboratories. The current screening approach is time consuming and inefficient. In this study, we analyzed all coding exons of TSC1 and TSC2 genes of 30 TSC patients and 47 unaffected family members using the traditional dHPLC protocol and our recently developed diagnostic platform based on high-resolution melting analysis (HRM) followed by bidirectional DNA sequencing. Data indicated that 20 mutations, including 5 mutations in TSC1 (2 sporadic, 1 familial mutation, and 2 of uncertain origin) and 15 mutations in TSC2 (14 sporadic and 1 familial mutation), 8 single-nucleotide polymorphisms (SNPs, including 3 SNPs found in irrelevant individuals without TSC phenotypes studied in the control group), and 3 variants with undetermined significance were identified, including 4 novel mutations. The sensitivities of HRM and dHPLC for TSC mutation screening were estimated as 95% and 75%, respectively. The specificities of HRM and dHPLC for TSC mutation screening were evaluated as 91% and 98%. In addition, results suggested our novel HRM screening protocol to be more economical. In conclusion, we successfully developed a superior approach for TSC genes mutation screening for clinical application.

Intracranial tumors in infants: a single institution experience of 22 patients.

OBJECTIVES: The prognosis in infants with brain tumors has hitherto been very poor. The purpose of the study was to collect and analyze information regarding the clinical presentation, diagnosis, and management of these patients and to assess the eventual prognosis regarding survival and response to treatment. MATERIALS AND METHODS: This study retrospectively reviewed the records of 22 infants with brain tumors at our institution between November 1995 and October 2009. Their medical records were retrieved for age at diagnosis, presenting features, location, histology, surgical procedures, adjuvant treatment, recurrence, and survival. RESULTS: The patients included 18 boys and four girls. The median age at diagnosis was 3 months with a range of antenatal diagnosis at 36 weeks of gestation up to 11.9 months. The group included four patients with definite congenital tumors presented in the perinatal period. The common presenting signs included increased head circumference, seizure, and vomiting. Over half of the tumors were histologically benign; however, medulloblastoma/primitive neuroectodermal tumor is the most frequent tumor type, accounting for six patients. Surgical resection was attempted in 18 patients, and three of them died in early postoperative period. Cerebrospinal fluid diversion was required in 11 patients, and seven of these patients needed VP shunting. Four patients received adjuvant chemotherapy, but one of them subsequently received salvage radiotherapy. CONCLUSION: Because of the expandability of the skull, brain tumors in infants may have protean manifestations. Although pathology categorization was quite a variable in our study, three quarters have tangibly survived after current therapeutic modalities.

Tuberous sclerosis complex with multiple intracranial aneurysms in an infant.

Tuberous sclerosis complex is a protean, genetically determined disease that may involve any organ or tissue and lead to a great number of signs and clinical features. Occlusive vascular disease and aneurysms of the cerebral and visceral arteries were described in these patients. We report on an 8-month-old boy who manifested tuberous sclerosis complex with multiple intracranial aneurysms involving the internal carotid artery and middle cerebral artery. The unusual features of our case favor the concepts of the presence of an arterial dysplasia in tuberous sclerosis complex, and of developmental defects as the cause of intracranial aneurysms.

Treatment of optic pathway hypothalamic gliomas in childhood: experience with 18 consecutive cases.

The aim of this study was to present our 17-year experience (1989 to 2006) in the treatment of optic pathway/hypothalamic gliomas (OPHG) in 18 children younger than 17 years (median age, 66 mo). Only 2 of these had evidence of neurofibromatosis-1. OPHG was diagnosed using computed tomography and/or magnetic resonance imaging. Histologic studies showed low-grade astrocytoma (WHO grade I or II) in 16 cases, anaplastic astrocytoma in 1, and oligoastrocytoma (WHO grade III) in 1. Treatment included partial tumor resection in 12 patients, chemotherapy in 5, and radiotherapy in 3. Ophthalmologic and visual alterations occurred in 12 patients, endocrine alterations in 6, and neurologic signs in 5. All treatment modalities led to tumor shrinkage and stabilization for a variable period, but none of them totally eradicated the tumor. Fourteen (78%) of 18 patients had a sustained reduction of tumor size between 6 months and 17 years. The 5-year overall and progression-free survival rates were 80.0% and 63.3%, respectively. Fifty-six percent of patients had endocrinologic sequelae, with growth hormone deficiency being the most common. Two patients died, none with neurofibromatosis-1, with a hypothalamic/chiasmatic tumor with suprasellar extension and accompanying electrolyte abnormalities. Because progression of these tumors is slow and associated with endocrinopathy, we recommend chemotherapy as a primary treatment of OPHG if the disease progresses.

Neuroimaging correlation with neurological severity in tuberous sclerosis complex.

OBJECTIVE: To delineate the relationship between neurological severity and neuroimage of lesion load including specific topography of supratentorial cortical tubers and white matter lesions in tuberous sclerosis complex (TSC). METHODS: Twenty-five TSC patients more than 2 years of age who underwent conventional and fluid-attenuated inversion recovery sequence (FLAIR) magnetic resonance imaging (MRI) were retrospectively studied. Neurological severity score was designated for three items: seizure, developmental delay and/or mental retardation, and autism. A neuroimaging scoring system was designed to evaluate the load of the cerebrum lesions with respect to location and size of cortical tubers and white matter lesions based on FLAIR MRI. RESULTS: A linear trend was observed between MRI lesion score and neurological severity score (r=0.511; p=0.009). The lesion score in the left temporal lobe has positive correlation to neurological severity score (r=0.609; p=0.001). CONCLUSIONS: The brain lesion load was positively correlated with neurological prognosis in TSC patients. Patients with larger lesion load in the left temporal lobe may be correlated with increased neurological severity in right-handed patients with TSC.

Spinal intramedullary abscess with an epidermoid secondary to a dermal sinus.

Congenital dermal sinuses are relatively uncommon, and result from abnormal neurulation. A lack of awareness about this problem causes these patients to manifest significant mortality and morbidity. Spinal intramedullary abscesses are rare and potentially devastating lesions. Intraspinal epidermoids are also unusual lesions. We report on a boy, aged 1 year and 5 months, who had a lower-back hairy hemangioma at birth without further evaluation, and dermal sinus tract without surgical intervention at age 7 months. He also manifested rapidly progressive paraplegia with urine and stool retention, and was found to have a spinal intramedullary abscess with an epidermoid as the result of a dermal sinus. This patient illustrates the importance of the recognition and evaluation of skin markers, and of an awareness and complete neurological assessment of all patients with a congenital dermal sinus, because of the potential for intradural extension and a frequent association with other dysraphic abnormalities. Prophylactic surgery is indicated to prevent dangerous and recurrent infections of the central nervous system.